Desmoid-type fibromatosis: imaging features and course

Okuda, Miho; Yoshida, Kotaro; Kobayashi, Satoshi; Gabata, Toshifumi

doi:10.1007/s00256-023-04275-x

Cited by 5 publications

(16 citation statements)

References 70 publications

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“…Ultrasound, CT, and MRI are the main diagnostic tools for DF, with CT being the preferred diagnostic and postoperative follow-up tool for intra-abdominal DF (14). The appearance of DF tissue varies depending on its composition (15). On CT scans, DF typically appears as an expansile, homogeneous or heterogeneously enhancing mass, often exhibiting calcifications (14).…”

Section: Figurementioning

confidence: 99%

Case report: A rare case of desmoid-type fibromatosis originating in the small intestine

Xie,

Lai,

Wang

et al. 2023

Front. Med.

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BackgroundDesmoid-type fibromatosis (DF) is characterized by a rare monoclonal fibroblast proliferation that exhibits variable and unpredictable clinical presentation. DF can be classified into sporadic and hereditary types. Despite extensive research efforts, the exact etiology of DF remains elusive.Case descriptionA 31-year-old male patient presented to the hospital with a progressively growing mass in the right lower abdomen, accompanied by abdominal discomfort. Symptoms are discovered 1 week before admission. Enteroscopy revealed no evidence of colonic abnormalities, and blood tests did not indicate any abnormalities. Due to the indeterminate nature of the mass during surgery, a partial resection of the ileum and cecum was performed, followed by ileocolonic end-to-end anastomosis, with no postoperative complications. The final pathological diagnosis confirmed primary desmoid-type fibromatosis of the distal ileum (invasive fibromatosis). To effectively manage DF, we recommend a follow-up schedule for patients. This includes appointments every 3 months in the first year following surgery, followed by appointments every 6 months up to the fifth year, and then once a year thereafter. The follow-up examinations should include collection of the patient’s medical history, physical examination, blood tests, ultrasounds, CT scans, and other relevant assessments. During the first year of the follow-up period, no further treatment was administered, and the patient remained disease-free.ConclusionDesmoid-type fibromatosis (DF) originating from the small intestine is an extremely rare condition that exhibits local invasiveness and can be life-threatening. Despite its benign histology, DF has a high local recurrence rate and lacks metastatic potential. Diagnosis of DF remains challenging, especially in cases where surgical intervention is not feasible due to asymptomatic patients or partial organ impairment. In such cases, a “watchful waiting” approach is recommended as the initial treatment strategy. However, when preoperative diagnosis is difficult, surgery is typically considered the best option. Given the potential for local recurrence and the uncertain long-term prognosis, regular follow-up is necessary.

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Section: Figurementioning

confidence: 99%

Case report: A rare case of desmoid-type fibromatosis originating in the small intestine

Xie,

Lai,

Wang

et al. 2023

Front. Med.

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“…These decisions should be based on at least two additional evaluations and generally do not apply within the first year of diagnosis. This is due to the potential for EADTF to undergo spontaneous regression after initial advancement [80,81]. Nevertheless, if the tumor is located adjacent to a vital anatomical structure that could significantly increase morbidity, it may be appropriate to consider proactive treatment earlier to mitigate the potential risk of morbidity before the disease stabilizes [74].…”

Section: Discussionmentioning

confidence: 99%

Current Treatment Concepts for Extra-Abdominal Desmoid-Type Fibromatosis: A Narrative Review

Lee,

Joo,

Shin

et al. 2024

Cancers

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Extra-abdominal desmoid-type fibromatosis (EADTF) is a rare neoplastic condition of monoclonal fibroblastic proliferation characterized by local aggressiveness with a distinct tendency to recur. Although EADTF is a benign disease entity, these tumors have a tendency to infiltrate surrounding normal tissues, making it difficult to completely eliminate them without adjacent healthy tissue injury. Surgical excision of these locally aggressive tumors without clear resection margins often leads to local recurrence. The aim of this thorough review was to assess the current treatment concepts for these rare tumors. A comprehensive search of articles published in the Cochrane Library, MEDLINE (PubMed), and EMBASE databases between January 2008 and February 2023 was conducted. Surgical intervention is no longer the first-line approach for most cases; instead, strategies like active surveillance or systemic therapies are used as initial treatment options. With the exception of EADTFs situated near vital structures, a minimum of 6–12 months of active surveillance is currently advocated for, during which some disease progression may be considered acceptable. Non-surgical interventions such as radiation or cryoablation may be employed in certain patients to achieve local control. The currently preferred systemic treatment options include tyrosine kinase inhibitors, low-dose chemotherapy, and gamma-secretase inhibitors, while hormone therapy is not advised. Nonsteroidal anti-inflammatory drugs are utilized primarily for pain management.

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“…17 Estimation of the degree of fibrosis through a semi-quantitative fibrosis score was based on the visual assessment of the percentage of low signal intensity areas on T2-weighted images within the tumor using adjacent normal muscle as reference. 18 An original scoring system was developed to analyze the importance of fibrosis modification during therapy, from 1 to 4, defined as percentage of fibrosis modification within the tumor, which frequently corresponds to a favorable response to therapy: 19 1= 0 to 25%, 2= 26 to 50%, 3= 51 to 75% and 4= > 75% respectively of tumor surface.…”

Section: Methodsmentioning

confidence: 99%

Oral vinorelbine in young patients with desmoid-type fibromatosis

Kornreich

Orbach

Nicolas

et al. 2023

Tumori

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Background: Desmoid-type fibromatosis are rare intermediate tumors in children and adolescents. Owing to local aggressiveness and relapse, systemic treatment for symptomatic advanced or progressive forms is recommended. Following promising results in adult patients, oral vinorelbine is investigated in young patients. Methods: A retrospective review of young patients (<25 years old) with advanced or progressive desmoid type fibromatosis treated with oral vinorelbine in eight large centers of the Société Française des Cancers de l’Enfant was performed. In addition to tumor assessment according to RECIST 1.1, pre-treatment and during-treatment imagery were reviewed centrally to assess tumor volume and estimate fibrosis score through the change in percentage in hypoT2 signal intensity. Results: From 2005 to 2020, 24 patients (median age 13.9 years [range, 1.0-23.0]) received oral vinorelbine. Median number of prior systemic lines of treatment was 1 (range, 0-2), mainly based on intravenous low dose methotrexate and vinblastine. Before vinorelbine initiation, all patients had a progressive disease: radiological for 19, radiological and clinical (pain) for three and only clinical for two. Oral vinorelbine was delivered for a median duration of 12 months (range, 1-42). The toxicity profile was favorable, with no grade 3-4 event. Overall response estimated on 23 evaluable patients according to RECIST 1.1 criteria was three partial responses (13%), 18 stabilization (78%) and two progressive disease (9%). Overall progression-free survival was 89.3% (95% confidential intervals 75.2-100) at 24 months. Four stable tumors according to standard RECIST criteria displayed a partial response with > 65% tumor volume reduction. Among 21 informative patients, the estimated fibrosis score decreased for 15 patients, was stable for four patients and increased for two patients. Conclusion: Oral vinorelbine seems to be effective to control advanced or progressive desmoid type fibromatosis in young patients, with a well-tolerated profile. These results support testing this drug as first-line alone or in combination to improve response rate while preserving quality of life.

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Desmoid-type fibromatosis: imaging features and course

Cited by 5 publications

References 70 publications

Case report: A rare case of desmoid-type fibromatosis originating in the small intestine

Case report: A rare case of desmoid-type fibromatosis originating in the small intestine

Current Treatment Concepts for Extra-Abdominal Desmoid-Type Fibromatosis: A Narrative Review

Oral vinorelbine in young patients with desmoid-type fibromatosis

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